Search Results - "Hoertnagel, K"

Epilepsy in patients with GRIN2A alterations: genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs by Stülpnagel, C.v., M.D, Ensslen, M, Møller, R.S, Pal, D.K, Masnada, S, Veggiotti, P, Piazza, E, Dreesmann, M, Hartlieb, T, Herberhold, T, Hughes, E, Koch, M, Kutzer, C, Hoertnagel, K, Nitanda, J, Pohl, M, Rostásy, K, Haack, T.B, Stöhr, K, Kluger, G, Borggraefe, I

“…Summary Objective To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment…”
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Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein by Strom, Tim M., Hörtnagel, Konstanze, Hofmann, Sabine, Gekeler, Florian, Scharfe, Curt, Rabl, Wolfgang, Gerbitz, Klaus D., Meitinger, Thomas

“…Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy and a number of neurological…”
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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency by Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T.

“…Mutations of SURF‐1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency…”
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MITOP, the mitochondrial proteome database: 2000 update by Scharfe, C, Zaccaria, P, Hoertnagel, K, Jaksch, M, Klopstock, T, Dembowski, M, Lill, R, Prokisch, H, Gerbitz, K D, Neupert, W, Mewes, H W, Meitinger, T

“…MITOP (http://www.mips.biochem.mpg.de/proj/medgen/mitop/) is a comprehensive database for genetic and functional information on both nuclear- and…”
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MITOP: database for mitochondria-related proteins, genes and diseases by Scharfe, C., Zaccaria, P., Hoertnagel, K., Jaksch, M., Klopstock, T., Lill, R., Prokisch, H., Gerbitz, K.-D., Mewes, H. W., Meitinger, T.

“…The MITOP database http://websvr.mips.biochem.mpg.de/proj/medgen/mitop/ consolidates information on both nuclear- and mitochondrial-encoded genes and their…”
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A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach by Dörre, K., Olczak, M., Wada, Y., Sosicka, P., Grüneberg, M., Reunert, J., Kurlemann, G., Fiedler, B., Biskup, S., Hörtnagel, K., Rust, S., Marquardt, T.

“…Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often,…”
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Prenatal sonographic diagnosis of skeletal dysplasias by Schramm, T., Gloning, K. P., Minderer, S., Daumer‐Haas, C., Hörtnagel, K., Nerlich, A., Tutschek, B.

“…Objective To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal…”
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Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2 by Oldenburg, Johannes, Rost, Simone, Fregin, Andreas, Ivaskevicius, Vytautas, Conzelmann, Ernst, Hörtnagel, Konstanze, Pelz, Hans-Joachim, Lappegard, Knut, Seifried, Erhard, Scharrer, Inge, Tuddenham, Edward G. D, Müller, Clemens R, Strom, Tim M

“…Coumarin derivatives such as warfarin represent the therapy of choice for the long-term treatment and prevention of thromboembolic events. Coumarins target…”
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An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria by Hörtnagel, Konstanze, Prokisch, Holger, Meitinger, Thomas

“…Mutations in the human PANK2 gene have been shown to occur in autosomal-recessive pantothenate kinase-associated neurodegeneration, a syndrome originally…”
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Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency by Tiranti, Valeria, Hoertnagel, Konstanze, Carrozzo, Rosalba, Galimberti, Claudia, Munaro, Monica, Granatiero, Matteo, Zelante, Leopoldo, Gasparini, Paolo, Marzella, Rosalia, Rocchi, Mariano, Bayona-Bafaluy, M. Pilar, Enriquez, Josè-Antonio, Uziel, Graziella, Bertini, Enrico, Dionisi-Vici, Carlo, Franco, Brunella, Meitinger, Thomas, Zeviani, Massimo

“…Leigh disease associated with cytochrome c oxidase deficiency (LD [COX−] ) is one of the most common disorders of the mitochondrial respiratory chain, in…”
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Burkitt lymphoma in the mouse by Kovalchuk, A L, Qi, C F, Torrey, T A, Taddesse-Heath, L, Feigenbaum, L, Park, S S, Gerbitz, A, Klobeck, G, Hoertnagel, K, Polack, A, Bornkamm, G W, Janz, S, Morse, 3rd, H C

“…Chromosomal translocations juxtaposing the MYC protooncogene with regulatory sequences of immunoglobulin (Ig) H chain or kappa (Ig kappa) or lambda (Ig lambda)…”
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The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome by Baumeister, F A M, Auer, D P, Hörtnagel, K, Freisinger, P, Meitinger, T

“…Pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome, is a rare autosomal recessive disorder characterized by…”
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c-myc Activation Renders Proliferation of Epstein-Barr Virus (EBV)-Transformed Cells Independent of EBV Nuclear Antigen 2 and Latent Membrane Protein 1 by Polack, A., Hortnagel, K., Pajic, A., Christoph, B., Baier, B., Falk, M., Mautner, J., Geltinger, C., Bornkamm, G.W., Kempkes, B.

“…Two genetic events contribute to the development of endemic Burkitt lymphoma (BL) infection of B lymphocytes with Epstein-Barr virus (EBV) and the activation…”
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Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease by Klopstock, Thomas, Elstner, Matthias, Lücking, Christoph B., Müller-Myhsok, Bertram, Gasser, Thomas, Botz, Evelyn, Lichtner, Peter, Hörtnagel, Konstanze

“…Pantothenate kinase-associated neurodegeneration (PKAN) may serve as a model for Parkinson disease (PD) since many PKAN patients suffer from parkinsonism and…”
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Deregulation of the proto-oncogene c-myc through t(8;22) translocation in Burkitt's lymphoma by GERBITZ, A, MAUTNER, J, GELTINGER, C, HÖRTNAGEL, K, CHRISTOPH, B, ASENBAUER, H, KLOBECK, G, POLACK, A, BORNKAMM, G

“…In Burkitt's lymphoma (BL) cells the proto-oncogene c-myc is juxtaposed to one of the immunoglobulin (Ig) loci on chromosomes 2, 14, or 22. The c-myc gene…”
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Saturation mutagenesis of the E. coli RecA loop L2 homologous DNA pairing region reveals residues essential for recombination and recombinational repair by Hörtnagel, K, Voloshin, O N, Kinal, H H, Ma, N, Schaffer-Judge, C, Camerini-Otero, R D

“…The disordered mobile loop L2 of the Escherichia coli RecA protein is known to play a central role in DNA binding and pairing. To investigate the local…”
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Regulatory elements in the immunoglobulin kappa locus induce c‐myc activation and the promoter shift in Burkitt's lymphoma cells by Polack, A., Feederle, R., Klobeck, G., Hörtnagel, K.

“…In Burkitt's lymphoma cells the proto‐oncogene c‐myc is constantly juxtaposed through chromosomal translocation to one of the immunoglobulin loci on…”
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Activation of c-myc promoter P1 by immunoglobulin [kappa] gene enhancers in Burkitt lymphoma: functional characterization of the intron enhancer motifs [kappa]B, E box 1 and E box 2, and of the 3' enhancer motif PU by Wittekindt, Nicola E, Hortnagel, Konstanze, Geltinger, Christian, Polack, Axel

“…Deregulated expression of the proto-oncogene c-myc in Burkitt lymphoma (BL) cells carrying a t(2;8) translocation is mediated by a synergistic interaction of…”
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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency by Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T.

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Nucleosomal structures of c-myc promoters with transcriptionally engaged RNA polymerase II by Albert, Thomas, Mautner, Josef, Funk, Jens O., Hörtnagel, Konstanze, Pullner, Andrea, Eick, Dirk

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